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Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Lekszas, Caroline; Foresti, Ombretta; Raote, Ishier; Liedtke, Daniel; König, Eva-Maria; Nanda, Indrajit; Vona, Barbara; De Coster, Peter; Cauwels, Rita; Malhotra, Vivek; Haaf, Thomas.
Affiliation
  • Lekszas C; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Foresti O; Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Raote I; Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Liedtke D; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • König EM; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Nanda I; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • De Coster P; Department of Otorhinolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre (THRC), Eberhard Karls University Tübingen, Tübingen, Germany.
  • Cauwels R; Department of Pediatric Dentistry and Special Care, PaeCoMeDis Research Group, Ghent University Hospital, Ghent, Belgium.
  • Malhotra V; Department of Pediatric Dentistry and Special Care, PaeCoMeDis Research Group, Ghent University Hospital, Ghent, Belgium.
  • Haaf T; Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Elife ; 92020 02 26.
Article in En | MEDLINE | ID: mdl-32101163
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen / Alleles / Aryl Hydrocarbon Receptor Nuclear Translocator / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Elife Year: 2020 Document type: Article Affiliation country: Germany Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen / Alleles / Aryl Hydrocarbon Receptor Nuclear Translocator / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Elife Year: 2020 Document type: Article Affiliation country: Germany Country of publication: United kingdom